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ATOH8 atonal bHLH transcription factor 8 [ Homo sapiens (human) ]

Gene ID: 84913, updated on 2-Oct-2018

Summary

Official Symbol
ATOH8provided by HGNC
Official Full Name
atonal bHLH transcription factor 8provided by HGNC
Primary source
HGNC:HGNC:24126
See related
Ensembl:ENSG00000168874 Vega:OTTHUMG00000130178
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HATH6; bHLHa21
Expression
Broad expression in fat (RPKM 7.4), lung (RPKM 4.9) and 19 other tissues See more
Orthologs

Genomic context

See ATOH8 in Genome Data Viewer
Location:
2p11.2
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (85753786..85791383)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (85980909..86018506)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene granulysin Neighboring gene RNA, U1 small nuclear 38, pseudogene Neighboring gene VISTA enhancer hs1652 Neighboring gene microRNA 6071 Neighboring gene uncharacterized LOC284950 Neighboring gene RNA, 7SK small nuclear pseudogene 83 Neighboring gene ST3 beta-galactoside alpha-2,3-sialyltransferase 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14708, FLJ38730

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
E-box binding IDA
Inferred from Direct Assay
more info
PubMed 
activating transcription factor binding IEA
Inferred from Electronic Annotation
more info
 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
SMAD protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
formation of primary germ layer ISS
Inferred from Sequence or Structural Similarity
more info
 
myoblast proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of endothelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
nervous system development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of endothelial cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of endothelial cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of endothelial cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of gene expression IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
tube formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear speck IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein atonal homolog 8
Names
atonal homolog 6
atonal homolog 8
atonal homolog bHLH transcription factor 8
basic helix loop helix transcription factor 6
class A basic helix-loop-helix protein 21
helix-loop-helix protein hATH-6

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_032827.6NP_116216.2  protein atonal homolog 8

    See identical proteins and their annotated locations for NP_116216.2

    Status: VALIDATED

    Source sequence(s)
    AC012454, BC094832, BM671127, BQ018438, DA629171
    Consensus CDS
    CCDS1985.1
    UniProtKB/Swiss-Prot
    Q96SQ7
    Related
    ENSP00000304676.3, OTTHUMP00000160681, ENST00000306279.3, OTTHUMT00000252496
    Conserved Domains (1) summary
    pfam00010
    Location:231282
    HLH; Helix-loop-helix DNA-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    85753786..85791383
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533139.1XP_011531441.1  protein atonal homolog 8 isoform X1

    Conserved Domains (1) summary
    pfam00010
    Location:231282
    HLH; Helix-loop-helix DNA-binding domain
  2. XM_006712122.3XP_006712185.1  protein atonal homolog 8 isoform X2

    Conserved Domains (1) summary
    pfam00010
    Location:231282
    HLH; Helix-loop-helix DNA-binding domain

RNA

  1. XR_001739003.1 RNA Sequence

  2. XR_939732.1 RNA Sequence

  3. XR_939731.1 RNA Sequence

  4. XR_939733.2 RNA Sequence

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